<scp> <i>GABRG1</i> </scp> variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay-Reference-Cited by-同舟云学术

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GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay

Published:2022-09-19 Issue:12 Volume:188 Page:3546-3549
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Williams Aaron¹,Cooney Erin¹²,Segal Gabrielle¹,Narayanan Swetha¹²,Morand Megan¹²^ORCID,Agadi Satish¹³

Affiliation:

1. University of Texas Medical Branch School of Medicine Galveston Texas USA

2. Division of Medical Genetics and Metabolism, Department of Pediatrics University of Texas Medical Branch Galveston Texas USA

3. Division of Neurology, Department of Pediatrics University of Texas Medical Branch Galveston Texas USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62969

Reference28 articles.

1. Vitamin-Responsive Epileptic Encephalopathies in Children

2. Electrophysiology of GABAA and GABAB receptor subtypes

3. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

4. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

5. GABAA receptors: structure and function in the basal ganglia

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